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MYO5B Pathogenic Variants Found to Cause Intestinal Symptoms Without Microvillus Inclusion Disease in a Child Who Previously Underwent Liver Transplantation for PFIC-like Cholestasis.
Jarasvaraparn C, He M, Granadillo JL, Kulkarni S, Stoll J, Liss K. Jarasvaraparn C, et al. Among authors: kulkarni s. J Pediatr Gastroenterol Nutr. 2021 Jan 1;72(1):e22-e24. doi: 10.1097/MPG.0000000000002792. J Pediatr Gastroenterol Nutr. 2021. PMID: 32459745 Free PMC article.
A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1.
Reynolds M, Linneman LA, Luna S, Warner BB, Turmelle YP, Kulkarni SS, Jiang X, Khanna G, Shinawi M, Porter FD, Ory DS, Cole FS, Dickson PI. Reynolds M, et al. Among authors: kulkarni ss. Mol Genet Metab Rep. 2021 May 26;28:100772. doi: 10.1016/j.ymgmr.2021.100772. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34113546 Free PMC article.
3,354 results